A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia

American Journal of Medical Genetics

Volumn 108, Issue 3, 2002, Pages 241-246

  Tayebi, Nahid ^a   Andrews, David Q ^b   Park, Joseph K ^c   Orvisky, Eduard ^a   McReynolds, John ^a   Sidransky, Ellen ^a   Krasnewich, Donna M ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b NEMOURS CHILDREN S HOSPITAL   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

African American; Congenital disorders of glycosylation Ia; Genotype phenotype correlation; Insertion deletion mutation; Phosphomannomutase

Indexed keywords

ASPARAGINE LINKED OLIGOSACCHARIDE; PHOSPHOMANNOMUTASE;

ALLELE; ARTICLE; ATAXIA; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME BREAKAGE; CONGENITAL DISORDER OF GLYCOSYLATION IA; DELETION MUTANT; DEVELOPMENTAL DISORDER; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME ANALYSIS; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; METABOLIC DISORDER; MUSCLE HYPOTONIA; NEGRO; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; STOP CODON; STRABISMUS;

AFRICAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOSYLATION; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); SEQUENCE DELETION;

INSERTION SEQUENCES;

EID: 0037087282     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10246     Document Type: Article

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